LDS4
MCID: LYS017
MIFTS: 51

Loeys-Dietz Syndrome 4 (LDS4)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Loeys-Dietz Syndrome 4

MalaCards integrated aliases for Loeys-Dietz Syndrome 4:

Name: Loeys-Dietz Syndrome 4 57 12 20 72 29 6 15 70
Lds4 57 12 72
Aneurysm, Aortic and Cerebral, with Arterial Tortuosity and Skeletal Manifestations 57 12
Aortic and Cerebral Aneurysm with Arterial Tortuosity and Skeletal Manifestations 72
Syndrome, Loeys-Dietz, Type 4 39
Loeys-Dietz Syndrome, Type 4 13
Loeys-Dietz Syndrome Type 4 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
patients do not have ectopia lentis


HPO:

31
loeys-dietz syndrome 4:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Loeys-Dietz Syndrome 4

UniProtKB/Swiss-Prot : 72 Loeys-Dietz syndrome 4: An aortic aneurysm syndrome with widespread systemic involvement. LDS4 is characterized by arterial tortuosity, aortic dissection, intracranial aneurysm and subarachnoid hemorrhage, hypertelorism, bifid uvula, pectus deformity, bicuspid aortic valve, arachnodactyly, scoliosis, foot deformities, dural ectasia, joint hyperflexibility, and thin skin with easy bruising and striae.

MalaCards based summary : Loeys-Dietz Syndrome 4, also known as lds4, is related to scoliosis and marfan syndrome, and has symptoms including wrist sign and steinberg thumb sign. An important gene associated with Loeys-Dietz Syndrome 4 is TGFB2 (Transforming Growth Factor Beta 2), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and PAK Pathway. Affiliated tissues include eye and skin, and related phenotypes are bicuspid aortic valve and emphysema

Disease Ontology : 12 A Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFB2 gene on chromosome 1q41.

More information from OMIM: 614816 PS609192

Related Diseases for Loeys-Dietz Syndrome 4

Diseases in the Loeys-Dietz Syndrome family:

Loeys-Dietz Syndrome 1 Loeys-Dietz Syndrome 2
Loeys-Dietz Syndrome 3 Loeys-Dietz Syndrome 4
Loeys-Dietz Syndrome 5

Diseases related to Loeys-Dietz Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 scoliosis 30.3 TGFBR2 TGFB2 SMAD3 FBN1
2 marfan syndrome 30.2 TGFBR2 TGFBR1 TGFB2 FBN1
3 aortic aneurysm 29.8 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
4 loeys-dietz syndrome 29.7 TGFBR2 TGFBR1 TGFB3 TGFB2-OT1 TGFB2-AS1 TGFB2
5 orthostatic intolerance 29.5 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 FBN1
6 loeys-dietz syndrome 1 29.3 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
7 aortic aneurysm, familial thoracic 1 29.3 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
8 loeys-dietz syndrome 3 29.0 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
9 hypermobile ehlers-danlos syndrome 10.4
10 pulsating exophthalmos 10.2 TGFBR2 TGFBR1
11 transient hypogammaglobulinemia of infancy 10.2 TGFBR2 TGFBR1
12 transient hypogammaglobulinemia 10.2 TGFBR2 TGFBR1
13 holt-oram syndrome 10.2
14 alacrima, achalasia, and mental retardation syndrome 10.2
15 isolated ectopia lentis 10.2
16 blood platelet disease 10.2
17 cerebrovascular disease 10.2
18 retinal degeneration 10.2
19 tendinosis 10.2 TGFBR2 TGFB2
20 tuberculoid leprosy 10.2 TGFB3 TGFB2
21 multiple self-healing squamous epithelioma 10.2 TGFBR2 TGFBR1
22 tracheal stenosis 10.2 TGFB3 FBN1
23 ectopia lentis 1, isolated, autosomal dominant 10.2 TGFBR2 FBN1
24 ectopia lentis 2, isolated, autosomal recessive 10.2 TGFBR2 FBN1
25 peyronie's disease 10.1 TGFB3 TGFB2 SMAD3
26 ehlers-danlos syndrome, vascular type 10.1 TGFB2 FBN1
27 bullous keratopathy 10.1 TGFB3 TGFB2 FBN1
28 keratopathy 10.1 TGFB3 TGFB2 FBN1
29 autosomal dominant non-syndromic intellectual disability 19 10.1 SMAD3 SMAD2
30 mitral valve disease 10.1 TGFB3 TGFB2 FBN1
31 intracranial aneurysm 10.1 TGFBR2 TGFBR1 TGFB2
32 phacogenic glaucoma 10.1 TGFB2 FBN1
33 hereditary hemorrhagic telangiectasia 10.1 TGFBR2 TGFBR1 TGFB2
34 albinism, ocular, with late-onset sensorineural deafness 10.1 SMAD3 SMAD2
35 aortic aneurysm, familial thoracic 2 10.1 SLC2A10 FBN1
36 nephrogenic systemic fibrosis 10.1 SMAD3 SMAD2
37 mitochondrial dna depletion syndrome 12b 10.1 TGFBR2 TGFBR1 FBN1
38 aortic valve insufficiency 10.1 TGFBR2 TGFBR1 FBN1
39 loeys-dietz syndrome 2 10.1 TGFBR2 TGFBR1 FBN1
40 collagen disease 10.0 TGFBR2 TGFBR1 FBN1
41 spastic paraplegia 3, autosomal dominant 10.0 TGFB2 SMAD3 SMAD2
42 cutis laxa, autosomal recessive, type ia 10.0 SLC2A10 FBN1
43 hypertrophic scars 10.0 SMAD3 SMAD2 FBN1
44 cleft palate, isolated 9.9 TGFBR2 TGFBR1 TGFB3 TGFB2
45 subclavian artery aneurysm 9.9 TGFBR2 SLC2A10 FBN1
46 autosomal recessive cutis laxa type i 9.9 SLC2A10 FBN1
47 cleft soft palate 9.9 TGFBR2 SLC2A10
48 melorheostosis 9.9 SMAD3 SMAD2
49 stiff skin syndrome 9.9 TGFB2 FBN1
50 aortic aneurysm, familial abdominal, 1 9.8 TGFBR2 LINC00540 FBN1

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 4:



Diseases related to Loeys-Dietz Syndrome 4

Symptoms & Phenotypes for Loeys-Dietz Syndrome 4

Human phenotypes related to Loeys-Dietz Syndrome 4:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 bicuspid aortic valve 31 occasional (7.5%) HP:0001647
2 emphysema 31 occasional (7.5%) HP:0002097
3 pneumothorax 31 occasional (7.5%) HP:0002107
4 scoliosis 31 very rare (1%) HP:0002650
5 ptosis 31 very rare (1%) HP:0000508
6 hypertelorism 31 very rare (1%) HP:0000316
7 pes planus 31 very rare (1%) HP:0001763
8 retrognathia 31 very rare (1%) HP:0000278
9 high, narrow palate 31 very rare (1%) HP:0002705
10 aortic dissection 31 very rare (1%) HP:0002647
11 talipes equinovarus 31 very rare (1%) HP:0001762
12 striae distensae 31 very rare (1%) HP:0001065
13 arachnodactyly 31 very rare (1%) HP:0001166
14 dural ectasia 31 very rare (1%) HP:0100775
15 downslanted palpebral fissures 31 very rare (1%) HP:0000494
16 spondylolisthesis 31 very rare (1%) HP:0003302
17 joint hyperflexibility 31 very rare (1%) HP:0005692
18 bruising susceptibility 31 very rare (1%) HP:0000978
19 tall stature 31 very rare (1%) HP:0000098
20 hyperextensible skin 31 very rare (1%) HP:0000974
21 bifid uvula 31 very rare (1%) HP:0000193
22 torticollis 31 very rare (1%) HP:0000473
23 arterial tortuosity 31 very rare (1%) HP:0005116
24 chronic pain 31 very rare (1%) HP:0012532
25 broad uvula 31 very rare (1%) HP:0010809
26 inguinal hernia 31 HP:0000023
27 mitral valve prolapse 31 HP:0001634
28 aortic root aneurysm 31 HP:0002616
29 abnormal sternum morphology 31 HP:0000766
30 eosinophilic infiltration of the esophagus 31 HP:0410151

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
spondylolisthesis (rare)

Genitourinary External Genitalia Female:
inguinal hernia

Cardiovascular Vascular:
aortic dissection
aortic root aneurysm
arterial tortuosity
cerebrovascular aneurysm (in some patients)
fusiform dilation and tortuosity of cerebrovascular arteries

Skeletal Hands:
arachnodactyly
steinberg thumb sign

Skeletal:
joint hyperflexibility
tall stature

Skin Nails Hair Skin:
easy bruising
skin striae

Head And Neck Mouth:
high-arched palate
broad or bifid uvula (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Skeletal Pelvis:
protrusio acetabularis

Genitourinary External Genitalia Male:
inguinal hernia

Head And Neck Face:
retrognathia

Cardiovascular Heart:
mitral valve prolapse
bicuspid aortic valve (rare)

Neurologic Central Nervous System:
dural ectasia

Skeletal Limbs:
wrist sign

Skeletal Feet:
flat feet
club feet (in some patients)

Head And Neck Eyes:
hypertelorism (in some patients)
downslanting palpebral fissures (in some patients)

Respiratory Lung:
emphysema (rare)
pneumothorax (rare)

Clinical features from OMIM®:

614816 (Updated 20-May-2021)

UMLS symptoms related to Loeys-Dietz Syndrome 4:


wrist sign; steinberg thumb sign

GenomeRNAi Phenotypes related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

26 (show all 34)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.92 SMAD2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.92 SMAD2 TGFB2 TGFBR1 TGFBR2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.92 TGFB2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.92 TGFBR2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.92 TGFBR2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.92 TGFB2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.92 TGFB2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.92 TGFBR1 TGFBR2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.92 TGFBR2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-165 9.92 TGFBR2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.92 TGFBR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.92 SMAD2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.92 SMAD2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.92 TGFBR2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.92 TGFBR2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.92 TGFB2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.92 TGFBR1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.92 SMAD2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.92 SMAD2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.92 TGFB2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.92 TGFBR1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.92 SMAD2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.92 TGFBR1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.92 TGFBR2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.92 TGFB2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.92 TGFBR2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-59 9.92 TGFB2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.92 TGFB2 TGFBR1 TGFBR2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.92 TGFBR2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-72 9.92 TGFB2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.92 TGFB2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.92 TGFBR1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.92 TGFBR1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.92 TGFBR1

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 FBN1 PPFIA2 SLC2A10 SMAD2 SMAD3 TGFB2
2 craniofacial MP:0005382 9.63 FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR2
3 embryo MP:0005380 9.56 FBN1 NDUFA9 SMAD2 SMAD3 TGFB2 TGFB3
4 respiratory system MP:0005388 9.17 FBN1 SLC2A10 SMAD2 TGFB2 TGFB3 TGFBR1

Drugs & Therapeutics for Loeys-Dietz Syndrome 4

Search Clinical Trials , NIH Clinical Center for Loeys-Dietz Syndrome 4

Genetic Tests for Loeys-Dietz Syndrome 4

Genetic tests related to Loeys-Dietz Syndrome 4:

# Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome 4 29 TGFB2

Anatomical Context for Loeys-Dietz Syndrome 4

MalaCards organs/tissues related to Loeys-Dietz Syndrome 4:

40
Eye, Skin

Publications for Loeys-Dietz Syndrome 4

Articles related to Loeys-Dietz Syndrome 4:

(show all 15)
# Title Authors PMID Year
1
Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease. 6 57
25046559 2014
2
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 6 57
22772368 2012
3
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. 6 57
22772371 2012
4
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing. 6
28425089 2017
5
Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting. 6
26188975 2015
6
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. 6
26184463 2015
7
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 6
25835445 2015
8
De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. 6
24798638 2014
9
A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. 6
23824657 2013
10
TGF-β - an excellent servant but a bad master. 6
22943793 2012
11
Crystal structure of transforming growth factor-beta 2: an unusual fold for the superfamily. 6
1631557 1992
12
[Comparison of results between the Robinson method of drainage and marsupialization]. 6
2618446 1989
13
Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4. 61
27440102 2017
14
Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. 61
25163805 2014
15
Diagnostic yield in adults screened at the Marfan outpatient clinic using the 1996 and 2010 Ghent nosologies. 61
22461464 2012

Variations for Loeys-Dietz Syndrome 4

ClinVar genetic disease variations for Loeys-Dietz Syndrome 4:

6 (show top 50) (show all 295)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TGFB2 NM_001135599.3(TGFB2):c.1097C>A (p.Pro366His) SNV Pathogenic 37085 rs387907278 GRCh37: 1:218610765-218610765
GRCh38: 1:218437423-218437423
2 TGFB2 NM_003238.5(TGFB2):c.294_308del (p.Ala100_Tyr104del) Deletion Pathogenic 37086 rs398122883 GRCh37: 1:218520337-218520351
GRCh38: 1:218346995-218347009
3 TGFB2 NM_003238.5(TGFB2):c.687C>A (p.Cys229Ter) SNV Pathogenic 37088 rs398122885 GRCh37: 1:218607723-218607723
GRCh38: 1:218434381-218434381
4 overlap with 21 genes Deletion Pathogenic 224870 GRCh37: 1:215588712-222145072
GRCh38:
5 overlap with 8 genes Deletion Pathogenic 224871 GRCh37: 1:216672181-220202575
GRCh38:
6 TGFB2 NM_001135599.3(TGFB2):c.979C>T (p.Arg327Trp) SNV Pathogenic 213845 rs863223792 GRCh37: 1:218609452-218609452
GRCh38: 1:218436110-218436110
7 TGFB2 NM_001135599.3(TGFB2):c.297C>A (p.Tyr99Ter) SNV Pathogenic 224874 rs760759052 GRCh37: 1:218520340-218520340
GRCh38: 1:218346998-218346998
8 TGFB2 NM_003238.5(TGFB2):c.1022_1026del (p.Tyr341fs) Deletion Pathogenic 224873 rs398122884 GRCh37: 1:218610773-218610777
GRCh38: 1:218437431-218437435
9 TGFB3 NM_003239.4(TGFB3):c.899G>A (p.Arg300Gln) SNV Pathogenic 143945 rs587777617 GRCh37: 14:76429686-76429686
GRCh38: 14:75963343-75963343
10 TGFB3 NM_003239.4(TGFB3):c.883_884del (p.Gly295fs) Deletion Pathogenic 410268 rs1060502826 GRCh37: 14:76429701-76429702
GRCh38: 14:75963358-75963359
11 TGFB3 NM_003239.4(TGFB3):c.1034C>G (p.Ser345Ter) SNV Pathogenic 410269 rs1060502827 GRCh37: 14:76427312-76427312
GRCh38: 14:75960969-75960969
12 TGFB3 NM_003239.4(TGFB3):c.989G>A (p.Trp330Ter) SNV Pathogenic 477652 rs1555360222 GRCh37: 14:76427357-76427357
GRCh38: 14:75961014-75961014
13 TGFB3 NM_003239.4(TGFB3):c.973C>T (p.Arg325Ter) SNV Pathogenic 477651 rs1555360229 GRCh37: 14:76427373-76427373
GRCh38: 14:75961030-75961030
14 TGFB2 NM_003238.5(TGFB2):c.896G>A (p.Arg299Gln) SNV Pathogenic 381708 rs1057521150 GRCh37: 1:218609453-218609453
GRCh38: 1:218436111-218436111
15 TGFB2 NM_001135599.4:c.595_1245del Deletion Pathogenic 620591 GRCh37:
GRCh38:
16 TGFB3 NM_003239.5(TGFB3):c.109A>T (p.Lys37Ter) SNV Pathogenic 862476 GRCh37: 14:76447128-76447128
GRCh38: 14:75980785-75980785
17 TGFB3 NC_000014.9:g.(?_75958692)_(75980923_?)del Deletion Pathogenic 832288 GRCh37: 14:76425035-76447266
GRCh38:
18 TGFB3 NM_003239.4(TGFB3):c.442C>T (p.Arg148Ter) SNV Pathogenic 390113 rs1057523647 GRCh37: 14:76437972-76437972
GRCh38: 14:75971629-75971629
19 TGFB3 NM_003239.4(TGFB3):c.898C>T (p.Arg300Trp) SNV Pathogenic 203490 rs796051885 GRCh37: 14:76429687-76429687
GRCh38: 14:75963344-75963344
20 TGFB2 NM_003238.5(TGFB2):c.904C>T (p.Arg302Cys) SNV Pathogenic/Likely pathogenic 224872 rs869312903 GRCh37: 1:218609461-218609461
GRCh38: 1:218436119-218436119
21 TGFB3 NM_003239.4(TGFB3):c.353-1G>C SNV Likely pathogenic 477636 rs1555360883 GRCh37: 14:76438062-76438062
GRCh38: 14:75971719-75971719
22 TGFB3 NM_003239.4(TGFB3):c.517-1G>C SNV Likely pathogenic 569027 rs1566682530 GRCh37: 14:76437599-76437599
GRCh38: 14:75971256-75971256
23 TGFB2 NM_003238.5(TGFB2):c.958C>T (p.Arg320Cys) SNV Likely pathogenic 495213 rs1553303352 GRCh37: 1:218610710-218610710
GRCh38: 1:218437368-218437368
24 TGFB2 NM_003238.5(TGFB2):c.547C>T (p.Arg183Cys) SNV Likely pathogenic 547806 rs1436552875 GRCh37: 1:218607460-218607460
GRCh38: 1:218434118-218434118
25 TGFB2 NM_003238.5(TGFB2):c.458G>A (p.Arg153His) SNV Likely pathogenic 374302 rs1057518684 GRCh37: 1:218578622-218578622
GRCh38: 1:218405280-218405280
26 TGFB3 NM_003239.4(TGFB3):c.916del (p.Tyr306fs) Deletion Likely pathogenic 543951 rs1555360362 GRCh37: 14:76429669-76429669
GRCh38: 14:75963326-75963326
27 TGFB3 NM_003239.5(TGFB3):c.517-2A>G SNV Likely pathogenic 862608 GRCh37: 14:76437600-76437600
GRCh38: 14:75971257-75971257
28 TGFB3 NC_000014.9:g.(?_75958692)_(75971728_?)del Deletion Likely pathogenic 663430 GRCh37: 14:76425035-76438071
GRCh38: 14:75958692-75971728
29 TGFB3 NC_000014.9:g.(?_75958692)_(75965705_?)del Deletion Likely pathogenic 665632 GRCh37: 14:76425035-76432048
GRCh38: 14:75958692-75965705
30 TGFB3 NM_003239.4(TGFB3):c.927-1G>C SNV Likely pathogenic 487471 rs767548724 GRCh37: 14:76427420-76427420
GRCh38: 14:75961077-75961077
31 TGFB3 NM_003239.5(TGFB3):c.1219A>T (p.Lys407Ter) SNV Likely pathogenic 857481 GRCh37: 14:76425550-76425550
GRCh38: 14:75959207-75959207
32 TGFB3 NM_003239.5(TGFB3):c.926+1G>A SNV Likely pathogenic 858860 GRCh37: 14:76429658-76429658
GRCh38: 14:75963315-75963315
33 TGFB2 NM_003238.5(TGFB2):c.356C>T (p.Pro119Leu) SNV Conflicting interpretations of pathogenicity 213840 rs149533093 GRCh37: 1:218578520-218578520
GRCh38: 1:218405178-218405178
34 TGFB2 NM_001135599.3(TGFB2):c.*589C>A SNV Uncertain significance 295500 rs886045981 GRCh37: 1:218615293-218615293
GRCh38: 1:218441951-218441951
35 TGFB2 NM_001135599.3(TGFB2):c.*2980G>C SNV Uncertain significance 295537 rs886045993 GRCh37: 1:218617684-218617684
GRCh38: 1:218444342-218444342
36 TGFB2 NM_001135599.3(TGFB2):c.-679G>A SNV Uncertain significance 295467 rs886045964 GRCh37: 1:218519365-218519365
GRCh38: 1:218346023-218346023
37 TGFB2 NM_001135599.3(TGFB2):c.-699A>C SNV Uncertain significance 295464 rs886045961 GRCh37: 1:218519345-218519345
GRCh38: 1:218346003-218346003
38 TGFB2-OT1 , TGFB2 NM_001135599.3(TGFB2):c.*1615T>C SNV Uncertain significance 295520 rs886045987 GRCh37: 1:218616319-218616319
GRCh38: 1:218442977-218442977
39 TGFB3 NM_003239.4(TGFB3):c.965T>C (p.Ile322Thr) SNV Uncertain significance 410276 rs762643638 GRCh37: 14:76427381-76427381
GRCh38: 14:75961038-75961038
40 TGFB3 NM_003239.4(TGFB3):c.488G>A (p.Arg163Gln) SNV Uncertain significance 410273 rs920721092 GRCh37: 14:76437926-76437926
GRCh38: 14:75971583-75971583
41 TGFB2 NM_003238.5(TGFB2):c.1053G>A (p.Pro351=) SNV Uncertain significance 374978 rs142741166 GRCh37: 1:218610805-218610805
GRCh38: 1:218437463-218437463
42 TGFB3 NM_003239.4(TGFB3):c.557T>G (p.Ile186Ser) SNV Uncertain significance 410272 rs763289805 GRCh37: 14:76437558-76437558
GRCh38: 14:75971215-75971215
43 TGFB3 NM_003239.4(TGFB3):c.580C>T (p.Arg194Trp) SNV Uncertain significance 410271 rs368004396 GRCh37: 14:76437535-76437535
GRCh38: 14:75971192-75971192
44 TGFB3 NM_003239.4(TGFB3):c.797G>A (p.Arg266His) SNV Uncertain significance 392606 rs142069844 GRCh37: 14:76429788-76429788
GRCh38: 14:75963445-75963445
45 TGFB3 NM_003239.4(TGFB3):c.389A>G (p.Lys130Arg) SNV Uncertain significance 477637 rs780051351 GRCh37: 14:76438025-76438025
GRCh38: 14:75971682-75971682
46 TGFB3 NM_003239.4(TGFB3):c.872C>T (p.Pro291Leu) SNV Uncertain significance 410274 rs145121701 GRCh37: 14:76429713-76429713
GRCh38: 14:75963370-75963370
47 TGFB3 NM_003239.4(TGFB3):c.927-6T>A SNV Uncertain significance 477647 rs1555360247 GRCh37: 14:76427425-76427425
GRCh38: 14:75961082-75961082
48 TGFB3 NM_003239.4(TGFB3):c.797G>T (p.Arg266Leu) SNV Uncertain significance 477643 rs142069844 GRCh37: 14:76429788-76429788
GRCh38: 14:75963445-75963445
49 TGFB3 NM_003239.4(TGFB3):c.2T>A (p.Met1Lys) SNV Uncertain significance 477635 rs1555361455 GRCh37: 14:76447235-76447235
GRCh38: 14:75980892-75980892
50 TGFB3 NM_003239.4(TGFB3):c.806A>G (p.Lys269Arg) SNV Uncertain significance 477644 rs771638085 GRCh37: 14:76429779-76429779
GRCh38: 14:75963436-75963436

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 4:

72
# Symbol AA change Variation ID SNP ID
1 TGFB2 p.Arg299Trp VAR_068932 rs863223792
2 TGFB2 p.Arg302Cys VAR_068933 rs869312903
3 TGFB2 p.Pro338His VAR_068934 rs387907278

Expression for Loeys-Dietz Syndrome 4

Search GEO for disease gene expression data for Loeys-Dietz Syndrome 4.

Pathways for Loeys-Dietz Syndrome 4

Pathways related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

(show all 48)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.34 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
2
Show member pathways
13.23 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
3
Show member pathways
13.15 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
4 12.84 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
5
Show member pathways
12.8 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
6
Show member pathways
12.77 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
7 12.67 TGFBR2 TGFBR1 TGFB3 TGFB2
8
Show member pathways
12.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
9
Show member pathways
12.49 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
10 12.38 TGFBR2 TGFBR1 SMAD3 SMAD2
11 12.37 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
12 12.33 TGFB3 TGFB2 SMAD3 SMAD2
13
Show member pathways
12.27 TGFBR2 TGFBR1 SMAD3 SMAD2
14 12.26 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
15 12.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
16 12.15 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
17 12.13 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
18
Show member pathways
12.11 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
19 12.08 TGFBR2 TGFBR1 SMAD3 SMAD2
20 12.06 TGFBR2 TGFBR1 SMAD2
21 12.04 TGFBR2 TGFB2 SLC2A10
22 12.01 TGFBR1 SMAD3 SMAD2
23
Show member pathways
11.99 TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2
24
Show member pathways
11.9 TGFBR2 TGFBR1 SMAD3 SMAD2
25 11.85 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
26 11.81 TGFBR1 TGFB3 TGFB2
27
Show member pathways
11.8 TGFBR2 TGFBR1 SMAD3 SMAD2
28 11.78 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
29 11.77 TGFBR2 TGFBR1 SMAD3 SMAD2
30
Show member pathways
11.75 TGFBR2 TGFBR1 SMAD3 SMAD2
31 11.73 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
32
Show member pathways
11.71 TGFB3 TGFB2 FBN1
33 11.7 TGFBR2 TGFBR1 SMAD3
34
Show member pathways
11.69 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
35 11.66 TGFBR2 TGFBR1 SMAD3 SMAD2
36
Show member pathways
11.57 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
37 11.54 TGFBR2 TGFBR1 TGFB3 SMAD3 SMAD2
38 11.52 TGFBR2 TGFBR1 TGFB2
39 11.47 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
40
Show member pathways
11.25 TGFBR2 TGFBR1 TGFB3
41 11.25 TGFBR2 TGFBR1 TGFB3 SMAD2
42 11.14 TGFBR2 TGFBR1 SMAD3
43 11.03 TGFBR2 TGFBR1 TGFB3 TGFB2
44 10.97 SMAD3 SMAD2
45 10.95 SMAD3 SMAD2
46 10.95 TGFBR2 TGFBR1 SMAD3 SMAD2 FBN1
47 10.76 TGFB3 TGFB2
48 10.58 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2

GO Terms for Loeys-Dietz Syndrome 4

Cellular components related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heteromeric SMAD protein complex GO:0071144 8.96 SMAD3 SMAD2
2 SMAD protein complex GO:0071141 8.62 SMAD3 SMAD2

Biological processes related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 10.04 TGFBR2 TGFB3 TGFB2 SMAD3 SMAD2
2 response to hypoxia GO:0001666 9.93 TGFBR2 TGFB3 TGFB2 SMAD3
3 heart development GO:0007507 9.93 TGFBR2 TGFBR1 TGFB2 SMAD2 FBN1
4 in utero embryonic development GO:0001701 9.91 TGFBR2 TGFBR1 TGFB3 SMAD3 SMAD2
5 skeletal system development GO:0001501 9.89 TGFBR1 TGFB2 SMAD3 FBN1
6 anatomical structure morphogenesis GO:0009653 9.88 SMAD3 SMAD2 FBN1
7 kidney development GO:0001822 9.88 TGFBR1 TGFB2 FBN1
8 cell cycle arrest GO:0007050 9.88 TGFBR1 TGFB2 SMAD3
9 response to glucose GO:0009749 9.85 TGFBR2 SMAD2 NDUFA9
10 BMP signaling pathway GO:0030509 9.83 TGFB3 TGFB2 SMAD3 SMAD2
11 cellular response to transforming growth factor beta stimulus GO:0071560 9.82 TGFBR1 SMAD3 FBN1
12 positive regulation of stress fiber assembly GO:0051496 9.81 TGFBR1 TGFB3 SMAD3
13 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.8 TGFBR1 TGFB3 TGFB2
14 SMAD protein signal transduction GO:0060395 9.78 TGFB3 TGFB2 SMAD3 SMAD2
15 gastrulation GO:0007369 9.76 TGFBR2 SMAD3 SMAD2
16 ventricular septum morphogenesis GO:0060412 9.75 TGFBR2 TGFBR1 TGFB2
17 embryonic cranial skeleton morphogenesis GO:0048701 9.73 TGFBR2 TGFBR1 SMAD3 SMAD2
18 transforming growth factor beta receptor signaling pathway GO:0007179 9.73 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
19 cell-cell junction organization GO:0045216 9.72 TGFB3 TGFB2 SMAD3
20 developmental growth GO:0048589 9.71 SMAD3 SMAD2
21 outflow tract septum morphogenesis GO:0003148 9.71 TGFBR2 TGFB2
22 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.71 SMAD3 SMAD2
23 adrenal gland development GO:0030325 9.7 SMAD3 SMAD2
24 signal transduction involved in regulation of gene expression GO:0023019 9.7 SMAD3 SMAD2
25 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.69 TGFBR2 TGFBR1
26 positive regulation of SMAD protein signal transduction GO:0060391 9.69 TGFBR1 TGFB3
27 cardiac epithelial to mesenchymal transition GO:0060317 9.69 TGFBR1 TGFB2
28 ventricular trabecula myocardium morphogenesis GO:0003222 9.68 TGFBR1 TGFB2
29 atrioventricular valve morphogenesis GO:0003181 9.68 TGFBR2 TGFB2
30 primary miRNA processing GO:0031053 9.68 SMAD3 SMAD2
31 nodal signaling pathway GO:0038092 9.68 SMAD3 SMAD2
32 pericardium development GO:0060039 9.67 SMAD3 SMAD2
33 embryonic foregut morphogenesis GO:0048617 9.67 SMAD3 SMAD2
34 pathway-restricted SMAD protein phosphorylation GO:0060389 9.67 TGFBR2 TGFBR1 TGFB2
35 activin receptor signaling pathway GO:0032924 9.67 TGFBR2 TGFBR1 SMAD3 SMAD2
36 salivary gland morphogenesis GO:0007435 9.66 TGFB3 TGFB2
37 SMAD protein complex assembly GO:0007183 9.66 SMAD3 SMAD2
38 membranous septum morphogenesis GO:0003149 9.65 TGFBR2 TGFB2
39 common-partner SMAD protein phosphorylation GO:0007182 9.65 TGFBR2 SMAD2
40 negative regulation of macrophage cytokine production GO:0010936 9.63 TGFB3 TGFB2
41 response to cholesterol GO:0070723 9.63 TGFBR2 TGFBR1 SMAD2
42 wound healing GO:0042060 9.63 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
43 regulation of binding GO:0051098 9.62 SMAD3 SMAD2
44 secondary palate development GO:0062009 9.62 TGFBR2 TGFB3 TGFB2 SMAD2
45 regulation of transforming growth factor beta2 production GO:0032909 9.61 TGFB2 SMAD3
46 endocardial cushion fusion GO:0003274 9.61 TGFBR2 TGFB2
47 positive regulation of tight junction disassembly GO:1905075 9.6 TGFBR1 TGFB3
48 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.58 TGFBR2 TGFBR1 TGFB2
49 paraxial mesoderm morphogenesis GO:0048340 9.57 SMAD3 SMAD2
50 uterine wall breakdown GO:0042704 9.56 TGFB3 TGFB2

Molecular functions related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta binding GO:0050431 9.58 TGFBR2 TGFBR1 TGFB3
2 SMAD binding GO:0046332 9.56 TGFBR2 TGFBR1 SMAD3 SMAD2
3 I-SMAD binding GO:0070411 9.54 TGFBR1 SMAD3 SMAD2
4 R-SMAD binding GO:0070412 9.51 SMAD3 SMAD2
5 type I transforming growth factor beta receptor binding GO:0034713 9.5 TGFBR2 TGFB3 SMAD2
6 activin binding GO:0048185 9.49 TGFBR2 TGFBR1
7 co-SMAD binding GO:0070410 9.48 SMAD3 SMAD2
8 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.46 TGFBR2 TGFBR1
9 transforming growth factor beta-activated receptor activity GO:0005024 9.43 TGFBR2 TGFBR1
10 type II transforming growth factor beta receptor binding GO:0005114 9.33 TGFBR1 TGFB3 TGFB2
11 type III transforming growth factor beta receptor binding GO:0034714 9.13 TGFBR2 TGFB3 TGFB2
12 transforming growth factor beta receptor binding GO:0005160 8.92 TGFB3 TGFB2 SMAD3 SMAD2

Sources for Loeys-Dietz Syndrome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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